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JIMD Reports
|
July 13, 2022
Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency
Loai A Shakerdi, Jenny McNulty, Barbara Gillman, et al.
Irish Journal of Medical Science
|
July 11, 2015
Mohs micrographic surgery for periocular skin tumours in Ireland
M P Treacy, N C Wynne, J L Gale, et al.
Journal of Inherited Metabolic Disease
|
August 9, 2012
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment
K P Coss, P P Doran, C Owoeye, et al.
Molecular Genetics and Metabolism Reports
|
March 9, 2026
Galactose tolerance in adults with classical galactosaemia. Considering the gaps
L A Shakerdi, C Newman Thacker, K Moore, et al.
JIMD Reports
|
April 10, 2017
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
Lindsey Welling, Susan E Waisbren, Kevin M Antshel, et al.
Journal of Proteome Research
|
December 24, 2013
N-glycan abnormalities in children with galactosemia
Karen P Coss, Colin P Hawkes, Barbara Adamczyk, et al.
Neuropediatrics
|
March 6, 2004
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument
Y J Crow, J McMenamin, C A Haenggeli, et al.
Human Molecular Genetics
|
May 23, 1998
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication
E P Treacy, B R Akerman, L M Chow, et al.
JIMD Reports
|
September 6, 2021
Abnormal <i>N</i>-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake
Eileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.
JIMD Reports
|
December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C van Calcar, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 100) with videos related to
Sort By:
Page
of 10
JIMD Reports
|
July 13, 2022
Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency
Loai A Shakerdi, Jenny McNulty, Barbara Gillman, et al.
Irish Journal of Medical Science
|
July 11, 2015
Mohs micrographic surgery for periocular skin tumours in Ireland
M P Treacy, N C Wynne, J L Gale, et al.
Journal of Inherited Metabolic Disease
|
August 9, 2012
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment
K P Coss, P P Doran, C Owoeye, et al.
Molecular Genetics and Metabolism Reports
|
March 9, 2026
Galactose tolerance in adults with classical galactosaemia. Considering the gaps
L A Shakerdi, C Newman Thacker, K Moore, et al.
JIMD Reports
|
April 10, 2017
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
Lindsey Welling, Susan E Waisbren, Kevin M Antshel, et al.
Journal of Proteome Research
|
December 24, 2013
N-glycan abnormalities in children with galactosemia
Karen P Coss, Colin P Hawkes, Barbara Adamczyk, et al.
Neuropediatrics
|
March 6, 2004
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument
Y J Crow, J McMenamin, C A Haenggeli, et al.
Human Molecular Genetics
|
May 23, 1998
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication
E P Treacy, B R Akerman, L M Chow, et al.
JIMD Reports
|
September 6, 2021
Abnormal <i>N</i>-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake
Eileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.
JIMD Reports
|
December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C van Calcar, et al.
Page
of 10